Fructose intolerance is caused by the lack of an enzyme needed to break down fructose.
Typical symptoms include low blood sugar, sweating, confusion, and kidney damage.
The diagnosis is made by analyzing a sample of liver tissue.
Treatment includes avoiding fructose in the diet and, when needed, taking glucose tablets.
Fructose is a sugar present in table sugar (sucrose), honey, and many fruits. Fructose is also present in sorbitol (a sugar substitute).
Children who have one of these disorders are missing one of the enzymes needed to break down (metabolize) fructose. As a result, a by-product of fructose accumulates in the body, blocking the formation of glycogen and its conversion to glucose for use as energy.
There are different types of inherited disorders Inheritance of Single-Gene Disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more . In hereditary fructose intolerance, both parents of the affected child carry a copy of the abnormal gene. Because usually two copies of the abnormal gene are necessary for the disorder to occur, usually neither parent has the disorder. (See also Overview of Hereditary Metabolic Disorders Overview of Hereditary Metabolic Disorders Hereditary metabolic disorders are inherited genetic conditions that cause metabolism problems. Heredity is the passing of genes from one generation to the next. Children inherit their parents'... read more .)
Symptoms of Hereditary Fructose Intolerance
Ingesting more than tiny amounts of fructose or sucrose causes low blood sugar levels (hypoglycemia Hypoglycemia Hypoglycemia is abnormally low levels of sugar (glucose) in the blood. Hypoglycemia is most often caused by medications taken to control diabetes. Much less common causes of hypoglycemia include... read more ), with sweating, confusion, and sometimes seizures and coma. Affected children who continue to eat foods containing fructose develop kidney and liver damage, resulting in jaundice (yellow skin and eyes—see Jaundice in the Newborn Jaundice in the Newborn Jaundice is a yellow color to the skin and/or eyes caused by an increase in bilirubin in the bloodstream. Bilirubin is a yellow substance formed when hemoglobin (the part of red blood cells... read more ), vomiting, mental deterioration, seizures, and death.
Chronic symptoms include poor eating, failure to thrive, digestive symptoms, liver failure, and kidney damage. For most types of this disorder, early diagnosis and dietary restrictions started early in infancy can help prevent these more serious problems.
Fructokinase deficiency, which is a type of hereditary fructose intolerance, does not cause any symptoms.
Diagnosis of Hereditary Fructose Intolerance
Analysis of liver sample
Doctors base the diagnosis of hereditary fructose intolerance on the person's symptoms after consuming fructose and on a chemical analysis of a sample of liver tissue. The analysis helps doctors determine that the enzyme is missing.
People who may carry the gene that causes this disorder can undergo blood tests to determine whether they are carriers. Carriers Carrier Screening Genetic screening is used to determine whether a couple is at increased risk of having a baby with a hereditary genetic disorder. Hereditary genetic disorders are disorders of chromosomes or... read more are people who have an abnormal gene for a disorder but who do not have symptoms or visible evidence of the disorder.
Treatment of Hereditary Fructose Intolerance
Eliminating fructose, sucrose, and sorbitol from the diet
For hypoglycemia, glucose
Treatment of hereditary fructose intolerance involves excluding fructose (generally present in sweet fruits), sucrose, and sorbitol from the diet.
Severe attacks of hypoglycemia are relieved by glucose given by vein. Milder attacks are treated with glucose tablets, which should be carried by anyone who has hereditary fructose intolerance.
The following are some English-language resources that may be useful. Please note that THE MANUAL is not responsible for the content of these resources.
National Organization for Rare Disorders (NORD): This resource provides information to parents and families about rare diseases, including a list of rare diseases, support groups, and clinical trial resources.
Genetic and Rare Diseases Information Center (GARD): This resource provides and easy to understand information about rare or genetic diseases.